129S1.B6-Szt2^m1Frk/Frk

Stock number: 010918
Research areas: Neurobiology Research

Description

This chemically induced mutation of the seizure threshold 2 (Szt2) gene displays an low threshold for kindling induced seizures and may be useful in the studies of seizure susceptibility.

Detailed description

Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any electroencephalograhic, neurosensory or motor abnormalities. Although mice do not exhibit spontaneous seizures, non-invasive kindling produces an earlier latency to first minimal clonic seizure than C57BL/6J controls (4 tests vs. 7-8 tests). This mutant mouse strain may be useful in studies of epilepsy susceptibility.

In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Development

This mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males. Descendants of the mutagenized males were selected for low electroconvulsive (seizure) threshold (ECT). A point mutation (T to A) in the exon 32 splice site donor results in inclusion of intron 32. Mice were backcrossed to 129S1/SvImJ for ten generations before cryopreservation in 2010.

Allele

Symbol: Szt2^m1Frk
Name: mutation 1, Wayne N Frankel
MGI accession ID: MGI:4353995
Generation method: Chemically induced (ENU)
Marker symbol: Szt2
Marker name: seizure threshold 2
Marker synonyms: C1orf84; DEE18; EIEE18; KIAA0467; KICS1; MGC:69654; RGD1308616; seaizure threshold 2; SZT2A; SZT2B
Chromosome: 4
Strain of origin: C57BL/6J
Molecular note: A T to A mutation was induced by ENU in the exon 32 splice site donor resulting in inclusion of intron 32 in the mutant transcript. Northern blot analysis indicates about a 4 fold increase in mRNA expression in whole brains from homozygous mice.